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南非囊性纤维化的产前诊断。

Prenatal diagnosis of cystic fibrosis in South Africa.

作者信息

Nelson M M, Berman P A, Davidson J S, Petersen E M

出版信息

S Afr Med J. 1984 Nov 3;66(18):688-90.

PMID:6149625
Abstract

Prenatal diagnosis of cystic fibrosis (CF) has been made possible by the finding that the activity of various enzymes derived from the microvillar membranes of the fetus is decreased in 2nd trimester amniotic fluid. Gamma-glutamyl transpeptidase, aminopeptidase M and the phenylalanine-inhibitable form of alkaline phosphatase (AP) have been found to be of most diagnostic use in this respect, the odds of the fetus being affected with CF being 28:1 if the AP test is positive. When couples have already had a child with CF, pregnancies are being monitored by these methods at the University of Cape Town.

摘要

由于发现妊娠中期羊水内胎儿微绒毛膜衍生的各种酶活性降低,使得囊性纤维化(CF)的产前诊断成为可能。γ-谷氨酰转肽酶、氨肽酶M以及苯丙氨酸抑制型碱性磷酸酶(AP)在这方面被发现最具诊断价值。如果AP检测呈阳性,胎儿患CF的几率为28:1。当夫妇已有一个患CF的孩子时,开普敦大学正在通过这些方法对妊娠进行监测。

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